gene2phenotype

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Search results for FGFR2

Gene symbol	Genotype	Mutation consequence	Disease
FGFR2	monoallelic	activating	CROUZON SYNDROME
FGFR2	monoallelic	activating	BEARE-STEVENSON CUTIS GYRATA SYNDROME
FGFR2	monoallelic	activating	JACKSON-WEISS SYNDROME
FGFR2	monoallelic	activating	APERT SYNDROME
FGFR2	monoallelic	activating	ACROCEPHALOSYNDACTYLY TYPE V
FGFR2	monoallelic	all missense/in frame	LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
FGFR2	monoallelic	all missense/in frame	ANTLEY-BIXLER SYNDROME
FGFR2	not specified	not specified	LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME
FGFR2	monoallelic	activating	CROUZON SYNDROME
FGFR2	monoallelic	activating	BEARE-STEVENSON CUTIS GYRATA SYNDROME
FGFR2	monoallelic	activating	JACKSON-WEISS SYNDROME
FGFR2	monoallelic	activating	APERT SYNDROME
FGFR2	monoallelic	activating	ACROCEPHALOSYNDACTYLY TYPE V
FGFR2	monoallelic	gain of function	Cutis gyrata Beare stevenson
FGFR2	monoallelic	uncertain	LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME